CyrilCrodius
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"<em><strong>Nomenclature for describing mutations: </strong></em>
<em><strong>Amino acid substitutions.</strong> Use the one letter codes A=ala, C=cys, D=asp, E=glu, F=phe, G=gly, H=his, I=iso, K=lys, M=met, N=asp, P=pro, Q=gln, R=arg, S=ser, T=thr, V=val, W=trp, Y=tyr, X=stop. <strong>R117H or Arg117His</strong> - replace arginine 117 by histidine (the initiator methionine is codon 1). <strong>G542X </strong> or <strong>Gly542Stop</strong> - glycine 542 replaced by a stop codon.</em>
<em><strong>Nucleotide substitution. </strong>The A of the initiator ATG codon is +1; the immediately preceding base is -1. There is no zero. Give the nucleotide number followed by the change. If necessary use g. and c. to designate genomic and cDNA sequences. For changes within introns, when only the cDNA sequence is known in full, specify the intron number by IVSn or the number of the nearest exon position. <strong>1162G>A -</strong>replace guanine at position 1162 by adenine. <strong>621 + 1G>T or IVS4 + 1G>T</strong> - replace G by T at the first base of intron 4; exon 4 ends at nt 621.</em>
<em><strong>Deletions and insertions.</strong> Use del for deletions and ins for insertions. As above, for DNA changes the nucleotide position or interval comes first, for amino acid changes the amino acid symbol comes first. <strong>F508del</strong> - delete phenylalanine 508. <strong>6232-6236del </strong>or <strong>6232-6236delATAAG</strong> - delete 5 nucleotides (which can be specified) starting with nt 6232. <strong>409-410insC </strong>- insert C between nt 409 and 410.</em>"
Source : <a href="http://www.carolguze.com/oldsite/442mutations.htm">http://www.carolguze.com/oldsite/442mutations.htm</a>
<em><strong>Amino acid substitutions.</strong> Use the one letter codes A=ala, C=cys, D=asp, E=glu, F=phe, G=gly, H=his, I=iso, K=lys, M=met, N=asp, P=pro, Q=gln, R=arg, S=ser, T=thr, V=val, W=trp, Y=tyr, X=stop. <strong>R117H or Arg117His</strong> - replace arginine 117 by histidine (the initiator methionine is codon 1). <strong>G542X </strong> or <strong>Gly542Stop</strong> - glycine 542 replaced by a stop codon.</em>
<em><strong>Nucleotide substitution. </strong>The A of the initiator ATG codon is +1; the immediately preceding base is -1. There is no zero. Give the nucleotide number followed by the change. If necessary use g. and c. to designate genomic and cDNA sequences. For changes within introns, when only the cDNA sequence is known in full, specify the intron number by IVSn or the number of the nearest exon position. <strong>1162G>A -</strong>replace guanine at position 1162 by adenine. <strong>621 + 1G>T or IVS4 + 1G>T</strong> - replace G by T at the first base of intron 4; exon 4 ends at nt 621.</em>
<em><strong>Deletions and insertions.</strong> Use del for deletions and ins for insertions. As above, for DNA changes the nucleotide position or interval comes first, for amino acid changes the amino acid symbol comes first. <strong>F508del</strong> - delete phenylalanine 508. <strong>6232-6236del </strong>or <strong>6232-6236delATAAG</strong> - delete 5 nucleotides (which can be specified) starting with nt 6232. <strong>409-410insC </strong>- insert C between nt 409 and 410.</em>"
Source : <a href="http://www.carolguze.com/oldsite/442mutations.htm">http://www.carolguze.com/oldsite/442mutations.htm</a>